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The effects of tetrahydrobiopterin (BH4) treatment on brain function in individuals with phenylketonuria.
[phenylketonuria]
Phenylketonuria
(
PKU
)
is
a
rare
genetic
condition
characterized
by
an
absence
or
mutation
of
the
PAH
enzyme
,
which
is
necessary
for
the
metabolism
of
the
amino
acid
phenylalanine
into
tyrosine
.
Recently
,
sapropterin
dihydrochloride
,
a
synthetic
form
of
tetrahydrobiopterin
(
BH
4
)
,
has
been
introduced
as
a
supplemental
treatment
to
dietary
phe
control
for
PKU
.
Very
little
is
known
regarding
BH
4
treatment
and
its
effect
on
brain
and
cognition
.
The
present
study
represents
the
first
examination
of
potential
changes
in
neural
activation
in
patients
with
PKU
during
BH
4
treatment
.
To
this
end
,
we
utilized
an
n-back
working
memory
task
in
conjunction
with
functional
magnetic
resonance
imaging
(
fMRI
)
to
evaluate
functional
brain
integrity
in
a
sample
of
individuals
with
PKU
at
three
timepoints
:
Just
prior
to
BH
4
treatment
,
after
4
Â
weeks
of
treatment
,
and
after
6
Â
months
of
treatment
.
Neural
activation
patterns
observed
for
the
PKU
treatment
group
were
compared
with
those
of
a
demographically-matched
sample
of
healthy
non-
PKU
individuals
who
were
assessed
at
identical
time
intervals
.
Consistent
with
past
research
,
baseline
evaluation
revealed
impaired
working
memory
and
atypical
brain
activation
in
the
PKU
group
as
compared
to
the
non-
PKU
group
.
Most
importantly
,
BH
4
treatment
was
associated
with
improvements
in
both
working
memory
and
brain
activation
,
with
neural
changes
evident
earlier
(
4
-
week
timepoint
)
than
changes
in
working
memory
performance
(
6
-
month
timepoint
)
.
Diseases
Validation
Diseases presenting
"first examination"
symptom
child syndrome
phenylketonuria
pyruvate dehydrogenase deficiency
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